Stages of Duchenne

Diagnosis can be a time of terrible shock and devastation. But the prognosis for children with Duchenne is considerably better now than it was ten years ago. As therapies become better targeted and treatments are developed, prospects will improve further. Find out what we're doing to fund and accelerate research for treatments for Duchenne muscular dystrophy. We're working hard to cure this disease.

There are different stages to DMD, and how you care for children with it changes over time.

Each child is different and their journey is unique, some will hit stages earlier or later than others but here is a rough guide to what you can expect.

Duchenne often becomes noticeable at the stage that children begin to move around more. Children usually reach physical milestones like crawling or walking later. Getting up from the floor or from lying down may be difficult - they may resort to supporting themselves with their hands and thighs to stand upright (sometimes called Gowers' sign). They may walk more on their toes than other children. They may appear clumsy, fall more often, and have problems with climbing, jumping or running. There may be slower speech development. They may appear more tired than other boys.

The effects of the disease are first seen in the leg muscles. Calf muscles may appear to be enlarged or swollen. This is called pseudohypertrophy. Damaged muscle cells are replaced by fat and scar tissue which is called fibrosis.

Learning or behavioural difficulties may appear at this stage. These will range from none at all, to very slight, to more significant. These usually remain static and do not increase as the disease progresses.

AREAS TO CONSIDER

- a test to identify the specific genetic mutation to help choose treatment options and trials

Children at this stage will still be able to move around by themselves, but it will become increasingly difficult. As the thigh muscles weaken further, walking becomes harder. Children's balance may be affected, which may lead to a change in posture. They may walk on the balls of their feet or their toes more than other children. Walking will become harder and boys may tire more quickly. Climbing up and down stairs will become harder.

DMD children will lose the ability to walk independently and will start using a wheelchair on a more regular basis. They will still be able to use their arms to propel themselves around, but increased weakness will start spreading to the arms and neck. They will continue to be able to use their arms and fingers so they will still be able to write and use a computer.

Lungs will weaken, which may lead to difficulties with breathing. Breaths may become shallower, and the ability to cough lessens. This may lead to more chest infections because it's harder to clear mucus and germs from the chest. As breathing weakens, oxygen levels in the blood may fall, leading to tiredness, irritability, headaches on waking, inability to sleep and vivid dreams. Breathing respirators, and cough assist technologies can help with this. In time, support will be needed breathing, first overnight and then during the daytime.

The heart muscles will also be affected. This is called cardiomyopathy, and there are treatments available to help.

AREAS TO CONSIDER

- physiotherapy to remove mucus from the chest

- non invasive ventilation

- techniques to increase the air flow into the lungs

- breathing respirators

- hoists

- monitor for scoliosis

- bone drugs (bisphosphonate treatments)

- regular echocardiogram tests for the heart

- heart medication (ace inhibitors, beta blockers)

- promoting independence

- support for frustration, anger and emotional distress

- respite for carers

- ask consultant about a sleep study (if sleepy in the day or headaches)

Life expectancy is improving so there are more people with Duchenne muscular dystrophy who are in their thirties and forties. But as muscles weaken, paralysis will set in. Young adults may have difficulty chewing and swallowing food, this is called dysphagia. If it is severe, a feeding tube into the stomach may be needed. They will need help eating, drinking, going to the toilet, dressing, washing and being moved into bed and being turned in bed.

Many young adults continue to be able to use their fingers well into adult life. Their ability to talk usually remains good, and can be helped with speech therapy and speech amplification equipment. Their ability to be able to think for themselves is unimpaired and, with support, adults with Duchenne muscular dystrophy can play an active part in society.

AREAS TO CONSIDER

- good access to computer technology

- discussions about implementing independent living

- finding and keeping a job

- identifying and managing depression

- encouragement of emotional support outside the family in friendship groups.

Summit Therapeutics plc have announced positive 24-week interim data from PhaseOut DMD, their Phase 2 clinical trial of the utrophin modulator ezutromid. The data showed a significant reduction in muscle damage and an increase in utrophin in muscle biopsies.

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Our co-founders Alex Johnson and Emily Crossley met after their sons were diagnosed with Duchenne muscular dystrophy. They both set up charities, Alex with Joining Jack, Emily with the Duchenne Children’s Trust.

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